Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
Epilepsia
; 52(4): e23-5, 2011 Apr.
Article
em En
| MEDLINE
| ID: mdl-21371021
ABSTRACT
Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene. We report on two unrelated fathers with severe childhood epilepsy compatible with a possible diagnosis of Dravet syndrome, who both have a child with Dravet syndrome. Analysis of the SCN1A gene revealed a pathogenic mutation in both children. One father exhibited somatic mosaicism for the mutation detected in his son. A relatively favorable cognitive outcome in patients with Dravet syndrome patients may be explained by somatic mosaicism for the SCN1A mutation in brain tissue. A mild form of Dravet syndrome in adult patients is associated with a high recurrence risk and possibly a more severe epilepsy phenotype in their offspring.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Canais de Sódio
/
Epilepsias Mioclônicas
/
Predisposição Genética para Doença
/
Proteínas do Tecido Nervoso
Limite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article